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Background: As abnormal growth might be the first manifestation of undetected diseases, it is important to have accurate referral criteria and a proper diagnostic work-up. In the present paper we evaluate the diagnostic work-up in secondary health care according to existing consensus guidelines and study the frequency of underlying medical disorders.Methods: Data on growth and additional diagnostic procedures were collected from medical records of new patients referred for short stature to the outpatient clinics of the general paediatric departments of two hospitals (Erasmus MC - Sophia Children's Hospital, Rotterdam and Spaarne Hospital, Haarlem) between January 1998 and December 2002. As the Dutch Consensus Guideline (DCG) is the only guideline addressing referral criteria as well as diagnostic work-up, the analyses were based on its seven auxological referral criteria to determine the characteristics of children who are incorrectly referred and the adequacy of workup of those who are referred.Results: Twenty four percent of children older than 3 years were inappropriately referred (NCR). Of the correctly referred children 74-88% were short corrected for parental height, 40-61% had a height SDS <-2.5 and 21% showed height deflection (Delta HSDS < -0.25/yr or Delta HSDS < -1). In none of the children a complete detailed routine diagnostic work up was performed and in more than 30% no routine laboratory examination was done at all. Pathologic causes of short stature were found in 27 children (5%).Conclusion: Existing guidelines for workup of children with suspected growth failure are poorly implemented. Although poorly implemented the DCG detects at least 5% pathologic causes of growth failure in children referred for short stature. New guidelines for referral are required with a better sensitivity and specificity, wherein distance to target height should get more attention. The general diagnostic work up for short stature should include testing for celiac disease in all children and for Turner syndrome in girls. [ABSTRACT FROM AUTHOR]

Introduction: C1q is an essential part of the classical pathway of complement activation. Genetic deficiencies, caused by homozygous mutations in one of the C1q genes, are rare and are strongly associated with development of systemic lupus erythematosus (SLE). Here we describe a C1q-deficient patient with a compound heterozygous mutation., Material and Methods: Serum was analysed with enzyme-linked immunosorbent assay (ELISA) and Western blot for the presence of C1q, and DNA and RNA sequencing was performed to identify the mutations and confirm that these were located on different chromosomes., Results: The medical history of the patient includes SLE diagnosis at age 11 years with cerebral involvement at age 13, various infections, osteonecrosis and hemophagocytic syndrome. Using ELISA and Western blot, we confirmed the absence of C1q in the serum of the patient. Using DNA sequencing, two mutations in the C1QC gene were identified: c.100G > A p.(Gly34Arg) and c.205C > T p.(Arg69X). With RNA sequencing we confirmed that the mutations are located on different chromosomes., Discussion: The patient described in this case report has a compound heterozygous mutation in C1QC resulting in C1q deficiency.

Objective: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease., Methods: We performed an international survey, of clinicians treating C1q deficient patients. A high response rate of >70% of the contacted clinicians yielded information on 45 patients with C1q deficiency of which 25 are published., Results: Follow-up data of 45 patients from 31 families was obtained for a median of 11 years after diagnosis. Of these patients 36 (80%) suffer from SLE, of which 16 suffer from SLE and infections, 5 (11%) suffer from infections only and 4 (9%) have no symptoms. In total 9 (20%) of the C1q deficient individuals had died. All except for one died before the age of 20 years. Estimated survival times suggest 20% case-fatality before the age of 20, and at least 50% of patients are expected to reach their middle ages., Conclusion: Here we report the largest phenotypic data set on C1q deficiency to date, revealing high variance; with high mortality but also a subset of patients with an excellent prognosis. Management of C1q deficiency requires a personalized approach., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

A 2-year-old girl lost consciousness after the topical application of lidocaine-prilocaine cream (EMLA) in preparation for the removal of multiple mollusca contagiosa. Both the area on which cream was applied (80% of body surface) and the total amount of cream (90 g) exceeded the maximum dosage. Lidocaine-prilocaine cream is a widely used local anaesthetic with few side effects when used properly. Intoxication with a lidocaine-prilocaine preparation may have serious consequences, such as changes in intracardiac conduction, excitation or depression of the central nervous system and methaemoglobinaemia. In our patient both methaemoglobinaemia and depression of the central nervous system occurred, resulting in loss of consciousness. She was treated with 100% oxygen and fully recovered.

Background: The role of physical training in the management of children with exercise-induced asthma is controversial. A study was undertaken to determine whether a relationship could be found between the occurrence of exercise-induced asthma and the degree of cardiovascular fitness in asthmatic children., Methods: Twenty eight children aged 6-13 with mild to moderate asthma and dyspnoea during or after physical exercise were tested. All patients had a basal forced expiratory volume in one second (FEV1) of > 80% predicted. Twelve patients were taking corticosteroid maintenance medication by inhalation and 16 were not. Two exercise tests were performed on a treadmill to assess peak oxygen consumption rate (VO2max) and the percentage decrease in FEV1 after exercise., Results: There was no correlation between the VO2max and the percentage decrease in FEV1. Patients not taking steroids showed a greater fall in FEV1 than those receiving corticosteroid medication (mean fall in FEV1 28.7% versus 6.6%). Four of the 12 children treated with steroids and two of the 16 children not taking steroids had a level of cardiovascular fitness lower than the 5th percentile for healthy Dutch children., Conclusion: Normal cardiovascular fitness does not prevent exercise-induced asthma.

In order to quantify changes of the parenchyma/stroma relations in the progression of experimentally induced biliary fibrosis in the rat, localisation of lactate dehydrogenase activity and Sirius Red staining were used as criteria to detect parenchymal cells and collagen fibers, respectively. Blood levels of bilirubin, alkaline phosphatase, anti-thrombin III activity, alpha 2-antiplasmin, factor II and factor X were related to the data obtained by histomorphometric measurements in sections gathered 1, 2, 4 and 6 weeks after the onset of cholestasis in three animals and after 8 weeks in one animal. Histophotometry showed a reduction in volume density of the parenchymal cell mass of 96%, 78%, 76%, 62% and 59% of the control values, respectively. During the same period, the collagen increased 5-fold in 4 weeks time, levelling off afterwards. Newly formed collagen appeared in the portal areas in close association with proliferating ductules, invading with the latter into the parenchymal mass. After 6 weeks, regressive changes were observed in the ductule complexes formed, manifested by a lowering of the epithelium in which extensive apoptotic cell death was observed with the electron microscope. Of the blood parameters analyzed, the clotting factor X showed the best inverse correlation with the Sirius Red readings (rs = -0.84), i.e. the volume density of collagenous fibers.